Levittown Parents Will Not Give up Hope for Hannah

The warm feeling a parent gets when their infant child smiles can be more addictive than the most powerful drug. When Levittown resident Vicki Pizzullo saw her five-month old daughter, Hannah, flash a grin across her face, it felt like a downright miracle.

"We were told by the doctor that she would never be able to smile," said Pizzullo. "When we got home, she gave us a big, old smile. We were so surprised."

Hannah has been diagnosed with a rare and fatal strain of leukodystrophy called Krabbe (pronounced krabb-a) Disease. Also known as Globoid Cell Leukodystrophy, Krabbe is an inherited genetic disorder that affects the central and peripheral nervous systems.

Those diagnosed with the disease lack an enzyme needed for the production of myelin, which is white matter that surrounds and insulates nerve cells and helps transmit electrical messages to the brain. The disorder affects vision, speech, movement and physical and mental development.

Vicki and Hannah's father, Justin Ginion, noticed that Hannah did not seem to be developing properly soon after her January 15 birth, and that she had trouble eating.

"She wasn't hitting her milestones," said Pizzullo. "The doctor said she had acid reflux and that all babies are different."

Pizzullo and Ginion brought Hannah home with the diagnosis, but deep down they knew something else was happening. One day when Hannah refused to eat anything, they took her to specialists at Children's Hospital of Philadelphia to find out once and for all what was going on.

After running blood tests, the doctors there determined that she had a form of leukodystrophy. Last week, Hannah's parents found out that it was one of the rarest and most deadly strains. Life expectancy for newborn children with Krabbe is approximately two years.

Now, Pizzullo fights two separate, but related, struggles. The first, and most important, is to find the best possible care for Hannah. After spending a week at the Children's Hospital of Philadelphia to have a feeding tube surgically inserted into Hannah's stomach, Pizzullo and her mother have taken Hannah to Pittsburgh to visit Dr. Maria Escolar, one of the leading experts in Krabbe and leukodystrophy.

A Hope for Hannah website has been established to help the family manage the hospital bills, plane tickets and co-pays for doctor visits. Blue Hope for Hannah bracelets have just become available for $5 plus shipping costs, according to the Facebook page. E-mail ruca42992@aol.com with "Hope for Hannah" in the subject line if you are interested in ordering one.

The other battle is to increase awareness of Krabbe and help the push to place testing for the disease on the regular panel of newborn screenings. One of the most heart-breaking aspects of Hannah's condition is that it coud have been cured if doctors knew about it immediately after her January 15 birth.

"If she was screened for the disease, she could have received a bone marrow transplant," said Pizzullo. "We didn't know she had it until she started showing symptoms, and by then it was too late."

With the disease occurring in one out of every 100,000 births, awareness of Krabbe is extremely low. Only five states have implemented legislation to add Krabbe to the list of genetic screens for newborns, including New York, Illinois, New Mexico, Missouri and New Jersey, where Hannah was born. 

Emma's Law passed the New Jersey state legislature in 2012, and Governor Chris Christie signed the bill, but it was never implemented due to lack of funding. At his February budget presentation, Christie proposed a $1.6 million increase in funds for screening. Once implemented, it could help thousands of families avoid the fatal disease, but it comes too late for Hannah. 

Pennsylvania joins the rest of the country as a state that does not screen newborn children for Krabbe. Pizzullo urges the public to sign an online petition for state governments to implement the screening mandates.

"There's no cure for Krabbe," said Pizzullo. "It's so important to get the word out and have newborns screened right away. This whole outcome could have been different."